Titre:
  • INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
Auteur:Jacoby, Monique; Cox, James J; Gayral, Stéphanie; Hampshire, Daniel J; Ayub, Mohammed; Blockmans, Marianne; Pernot, Eileen; Kisseleva, Marina V; Compère, Philippe; Schiffmann, Serge N.; Gergely, Fanni; Riley, John H; Perez-Morga, David; Woods, C Geoffrey; Schurmans, Stéphane
Informations sur la publication:Nature genetics, 41, 9, page (1027-1031)
Statut de publication:Publié, 2009-09
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:1-Phosphatidylinositol 3-Kinase -- antagonists & inhibitors
1-Phosphatidylinositol 3-Kinase -- metabolism
Animals
Bardet-Biedl Syndrome -- genetics
Cell Line
Cell Nucleus -- metabolism
Cells, Cultured
Chromones -- pharmacology
Cilia -- genetics
Cilia -- metabolism
Cilia -- pathology
Cilia -- ultrastructure
Culture Media, Serum-Free
Embryo, Mammalian -- cytology
Embryo, Mammalian -- metabolism
Enzyme Inhibitors -- pharmacology
Fibroblasts -- cytology
Fibroblasts -- metabolism
Fibroblasts -- ultrastructure
Fluorescent Antibody Technique, Direct
Fluorescent Dyes -- metabolism
Genetic Markers
Green Fluorescent Proteins -- metabolism
Humans
Indoles -- metabolism
Linkage (Genetics)
Male
Mental Retardation -- genetics
Mice
Mice, Mutant Strains
Mice, Transgenic
Microsatellite Repeats
Morpholines -- pharmacology
Mutation
Obesity -- genetics
Penis -- abnormalities
Phosphoric Monoester Hydrolases -- genetics
Pigment Epithelium of Eye -- cytology
Pigment Epithelium of Eye -- metabolism
Polymorphism, Single Nucleotide
Receptor, Platelet-Derived Growth Factor alpha -- metabolism
Retinal Degeneration -- genetics
Signal Transduction -- physiology
Transfection
Tubulin -- metabolism
Note générale:Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:1061-4036
info:doi/10.1038/ng.427
info:pii/ng.427
info:scp/69349095810
info:pmid/19668215